Incidental Mutation 'IGL03140:Cd48'
ID410674
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd48
Ensembl Gene ENSMUSG00000015355
Gene NameCD48 antigen
SynonymsBcm-1, BCM1, BLAST-1, Sgp-60
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL03140
Quality Score
Status
Chromosome1
Chromosomal Location171682009-171705258 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 171695883 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 98 (V98A)
Ref Sequence ENSEMBL: ENSMUSP00000064241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015499] [ENSMUST00000068584]
PDB Structure
Structure of NK cell receptor 2B4 (CD244) bound to its ligand CD48 [X-RAY DIFFRACTION]
Structure of NK cell receptor ligand CD48 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000015499
AA Change: V98A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015499
Gene: ENSMUSG00000015355
AA Change: V98A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 28 125 1.96e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000068584
AA Change: V98A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064241
Gene: ENSMUSG00000015355
AA Change: V98A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 28 125 1.96e-6 SMART
IG_like 136 211 1.24e2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mutation of this gene results in a slight increase in CD4+CD8- thymocytes and impaired T cell proliferation in response to mitogens, anti-CD3 antibodies, and alloantigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 9,005,212 probably benign Het
Chd9 A T 8: 91,042,228 R2485S possibly damaging Het
Clec4a2 T C 6: 123,140,776 probably benign Het
Ddx21 A G 10: 62,594,071 L298S probably damaging Het
Efl1 A G 7: 82,692,881 E499G probably benign Het
Fry A G 5: 150,495,701 N2870S probably damaging Het
Gm15448 T C 7: 3,823,248 N249D probably benign Het
Ints8 G A 4: 11,235,565 P355S probably damaging Het
Kmo T A 1: 175,649,220 V200D probably damaging Het
Ldlrad4 A G 18: 68,254,514 D299G probably damaging Het
Mus81 T C 19: 5,483,956 T416A probably damaging Het
Nlrp6 T C 7: 140,927,487 S889P probably benign Het
Nlrp9c T A 7: 26,380,489 D704V probably benign Het
Olfml2a A G 2: 38,947,291 K149E probably damaging Het
Ovgp1 A G 3: 105,979,906 D206G probably damaging Het
Pcdhb3 T G 18: 37,301,219 H79Q probably benign Het
Rnf19b T A 4: 129,084,096 V701D probably benign Het
Setd2 T C 9: 110,614,952 probably null Het
Ubr3 A G 2: 69,970,189 Y952C probably damaging Het
Vmn1r205 T C 13: 22,592,576 I119V possibly damaging Het
Zfhx4 T G 3: 5,242,525 D270E probably damaging Het
Other mutations in Cd48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Cd48 APN 1 171695739 missense possibly damaging 0.95
R0311:Cd48 UTSW 1 171699580 nonsense probably null
R0490:Cd48 UTSW 1 171704877 makesense probably null
R1365:Cd48 UTSW 1 171699561 missense probably damaging 0.98
R1503:Cd48 UTSW 1 171695847 missense probably damaging 1.00
R1626:Cd48 UTSW 1 171682119 missense probably benign 0.30
R1628:Cd48 UTSW 1 171704852 missense probably damaging 0.99
R4076:Cd48 UTSW 1 171695883 missense probably damaging 1.00
R4753:Cd48 UTSW 1 171699588 missense probably damaging 0.99
R5488:Cd48 UTSW 1 171695705 missense possibly damaging 0.94
R6365:Cd48 UTSW 1 171682164 missense probably null 0.84
R7216:Cd48 UTSW 1 171695822 missense probably damaging 1.00
R7400:Cd48 UTSW 1 171695925 missense probably benign 0.00
R7702:Cd48 UTSW 1 171695780 missense probably damaging 0.99
R8041:Cd48 UTSW 1 171699390 missense probably damaging 0.99
Z1088:Cd48 UTSW 1 171695727 missense possibly damaging 0.89
Posted On2016-08-02